{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:24:42Z","timestamp":1791206682109,"version":"4.1.0"},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Cell Biol"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Neuronal ceroid lipofuscinoses (NCLs) comprise at least eight genetically characterized neurodegenerative disorders of childhood. Despite of genetic heterogeneity, the high similarity of clinical symptoms and pathology of different NCL disorders suggest cooperation between different NCL proteins and common mechanisms of pathogenesis. Here, we have studied molecular interactions between NCL proteins, concentrating specifically on the interactions of CLN5, the protein underlying the Finnish variant late infantile form of NCL (vLINCL<jats:sub>Fin<\/jats:sub>).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We found that CLN5 interacts with several other NCL proteins namely, CLN1\/PPT1, CLN2\/TPP1, CLN3, CLN6 and CLN8. Furthermore, analysis of the intracellular targeting of CLN5 together with the interacting NCL proteins revealed that over-expression of PPT1 can facilitate the lysosomal transport of mutated CLN5<jats:sub>FinMajor<\/jats:sub>, normally residing in the ER and in the Golgi complex. The significance of the novel interaction between CLN5 and PPT1 was further supported by the finding that CLN5 was also able to bind the F<jats:sub>1<\/jats:sub>-ATPase, earlier shown to interact with PPT1.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>We have described novel interactions between CLN5 and several NCL proteins, suggesting a modifying role for these proteins in the pathogenesis of individual NCL disorders. Among these novel interactions, binding of CLN5 to CLN1\/PPT1 is suggested to be the most significant one, since over-expression of PPT1 was shown to influence on the intracellular trafficking of mutated CLN5, and they were shown to share a binding partner outside the NCL protein spectrum.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2121-10-83","type":"journal-article","created":{"date-parts":[[2009,11,30]],"date-time":"2009-11-30T11:32:18Z","timestamp":1259580738000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":74,"title":["Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins"],"prefix":"10.1186","volume":"10","author":[{"given":"Annina","family":"Lyly","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina","family":"von Schantz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Heine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mia-Lisa","family":"Schmiedt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tessa","family":"Sipil\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anu","family":"Jalanko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aija","family":"Kytt\u00e4l\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,11,26]]},"reference":[{"issue":"10","key":"432_CR1","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1016\/j.bbadis.2006.06.010","volume":"1762","author":"M Haltia","year":"2006","unstructured":"Haltia M: The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta. 2006, 1762 (10): 850-856.","journal-title":"Biochim Biophys Acta"},{"issue":"2","key":"432_CR2","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/S0387-7604(88)80075-5","volume":"10","author":"P Santavuori","year":"1988","unstructured":"Santavuori P: Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 1988, 10 (2): 80-83.","journal-title":"Brain Dev"},{"issue":"10","key":"432_CR3","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1016\/j.bbadis.2006.05.006","volume":"1762","author":"E Siintola","year":"2006","unstructured":"Siintola E, Lehesjoki AE, Mole SE: Molecular genetics of the NCLs -- status and perspectives. Biochim Biophys Acta. 2006, 1762 (10): 857-864.","journal-title":"Biochim Biophys Acta"},{"issue":"1","key":"432_CR4","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1086\/518902","volume":"81","author":"E Siintola","year":"2007","unstructured":"Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK: The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter. Am J Hum Genet. 2007, 81 (1): 136-146. 10.1086\/518902.","journal-title":"Am J Hum Genet"},{"issue":"Pt 6","key":"432_CR5","doi-asserted-by":"publisher","first-page":"1438","DOI":"10.1093\/brain\/awl107","volume":"129","author":"E Siintola","year":"2006","unstructured":"Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynela J: Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain. 2006, 129 (Pt 6): 1438-1445. 10.1093\/brain\/awl107.","journal-title":"Brain"},{"issue":"4","key":"432_CR6","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1002\/ajmg.1320420428","volume":"42","author":"DN Palmer","year":"1992","unstructured":"Palmer DN, Fearnley IM, Walker JE, Hall NA, Lake BD, Wolfe LS, Haltia M, Martinus RD, Jolly RD: Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). Am J Med Genet. 1992, 42 (4): 561-567. 10.1002\/ajmg.1320420428.","journal-title":"Am J Med Genet"},{"issue":"1","key":"432_CR7","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/0014-5793(93)80908-D","volume":"330","author":"J Tyynela","year":"1993","unstructured":"Tyynela J, Palmer DN, Baumann M, Haltia M: Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis. FEBS Lett. 1993, 330 (1): 8-12. 10.1016\/0014-5793(93)80908-D.","journal-title":"FEBS Lett"},{"issue":"10","key":"432_CR8","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1016\/j.bbadis.2006.08.002","volume":"1762","author":"JD Cooper","year":"2006","unstructured":"Cooper JD, Russell C, Mitchison HM: Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. Biochim Biophys Acta. 2006, 1762 (10): 873-889.","journal-title":"Biochim Biophys Acta"},{"issue":"19","key":"432_CR9","doi-asserted-by":"crossref","first-page":"5240","DOI":"10.1002\/j.1460-2075.1996.tb00909.x","volume":"15","author":"E Hellsten","year":"1996","unstructured":"Hellsten E, Vesa J, Olkkonen VM, Jalanko A, Peltonen L: Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. Embo J. 1996, 15 (19): 5240-5245.","journal-title":"Embo J"},{"issue":"5333","key":"432_CR10","doi-asserted-by":"publisher","first-page":"1802","DOI":"10.1126\/science.277.5333.1802","volume":"277","author":"DE Sleat","year":"1997","unstructured":"Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P: Association of mutations in a lysosomal protein with classical late- infantile neuronal ceroid lipofuscinosis. Science. 1997, 277 (5333): 1802-1805. 10.1126\/science.277.5333.1802.","journal-title":"Science"},{"issue":"1","key":"432_CR11","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/jcb.240330106","volume":"33","author":"J Tang","year":"1987","unstructured":"Tang J, Wong RN: Evolution in the structure and function of aspartic proteases. Journal of cellular biochemistry. 1987, 33 (1): 53-63. 10.1002\/jcb.240330106.","journal-title":"Journal of cellular biochemistry"},{"issue":"1","key":"432_CR12","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1093\/hmg\/7.1.85","volume":"7","author":"I Jarvela","year":"1998","unstructured":"Jarvela I, Sainio M, Rantamaki T, Olkkonen V, Carpen O, Peltonen L, Jalanko A: Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet. 1998, 7 (1): 85-90. 10.1093\/hmg\/7.1.85.","journal-title":"Hum Mol Genet"},{"issue":"11","key":"432_CR13","doi-asserted-by":"publisher","first-page":"1691","DOI":"10.1093\/hmg\/9.11.1691","volume":"9","author":"L Lonka","year":"2000","unstructured":"Lonka L, Kyttala A, Ranta S, Jalanko A, Lehesjoki AE: The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Hum Mol Genet. 2000, 9 (11): 1691-1697. 10.1093\/hmg\/9.11.1691.","journal-title":"Hum Mol Genet"},{"issue":"2","key":"432_CR14","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1016\/j.yexcr.2004.04.042","volume":"298","author":"SE Mole","year":"2004","unstructured":"Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, Cutler DF: CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. Exp Cell Res. 2004, 298 (2): 399-406. 10.1016\/j.yexcr.2004.04.042.","journal-title":"Exp Cell Res"},{"issue":"10","key":"432_CR15","doi-asserted-by":"publisher","first-page":"920","DOI":"10.1016\/j.bbadis.2006.05.007","volume":"1762","author":"A Kyttala","year":"2006","unstructured":"Kyttala A, Lahtinen U, Braulke T, Hofmann SL: Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. Biochim Biophys Acta. 2006, 1762 (10): 920-933.","journal-title":"Biochim Biophys Acta"},{"issue":"1","key":"432_CR16","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.nbd.2003.12.019","volume":"16","author":"V Holmberg","year":"2004","unstructured":"Holmberg V, Jalanko A, Isosomppi J, Fabritius AL, Peltonen L, Kopra O: The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain. Neurobiol Dis. 2004, 16 (1): 29-40. 10.1016\/j.nbd.2003.12.019.","journal-title":"Neurobiol Dis"},{"issue":"3","key":"432_CR17","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1038\/975","volume":"19","author":"M Savukoski","year":"1998","unstructured":"Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L: CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet. 1998, 19 (3): 286-288. 10.1038\/975.","journal-title":"Nat Genet"},{"issue":"8","key":"432_CR18","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1093\/hmg\/11.8.885","volume":"11","author":"J Isosomppi","year":"2002","unstructured":"Isosomppi J, Vesa J, Jalanko A, Peltonen L: Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. Hum Mol Genet. 2002, 11 (8): 885-891. 10.1093\/hmg\/11.8.885.","journal-title":"Hum Mol Genet"},{"issue":"3","key":"432_CR19","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1002\/cne.10492","volume":"455","author":"L Ahtiainen","year":"2003","unstructured":"Ahtiainen L, Van Diggelen OP, Jalanko A, Kopra O: Palmitoyl protein thioesterase 1 is targeted to the axons in neurons. J Comp Neurol. 2003, 455 (3): 368-377. 10.1002\/cne.10492.","journal-title":"J Comp Neurol"},{"issue":"1","key":"432_CR20","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1093\/hmg\/10.1.69","volume":"10","author":"M Lehtovirta","year":"2001","unstructured":"Lehtovirta M, Kyttala A, Eskelinen EL, Hess M, Heinonen O, Jalanko A: Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL). Hum Mol Genet. 2001, 10 (1): 69-75. 10.1093\/hmg\/10.1.69.","journal-title":"Hum Mol Genet"},{"issue":"19","key":"432_CR21","doi-asserted-by":"publisher","first-page":"2123","DOI":"10.1093\/hmg\/10.19.2123","volume":"10","author":"K Luiro","year":"2001","unstructured":"Luiro K, Kopra O, Lehtovirta M, Jalanko A: CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease. Hum Mol Genet. 2001, 10 (19): 2123-2131. 10.1093\/hmg\/10.19.2123.","journal-title":"Hum Mol Genet"},{"issue":"3","key":"432_CR22","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.ymgme.2006.04.010","volume":"89","author":"C Bessa","year":"2006","unstructured":"Bessa C, Teixeira CA, Mangas M, Dias A, Sa Miranda MC, Guimaraes A, Ferreira JC, Canas N, Cabral P, Ribeiro MG: Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. Mol Genet Metab. 2006, 89 (3): 245-253. 10.1016\/j.ymgme.2006.04.010.","journal-title":"Mol Genet Metab"},{"issue":"7","key":"432_CR23","doi-asserted-by":"publisher","first-page":"2410","DOI":"10.1091\/mbc.E02-01-0031","volume":"13","author":"J Vesa","year":"2002","unstructured":"Vesa J, Chin MH, Oelgeschlager K, Isosomppi J, DellAngelica EC, Jalanko A, Peltonen L: Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3. Mol Biol Cell. 2002, 13 (7): 2410-2420. 10.1091\/mbc.E02-01-0031.","journal-title":"Mol Biol Cell"},{"issue":"6","key":"432_CR24","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1002\/pmic.200401054","volume":"5","author":"DE Sleat","year":"2005","unstructured":"Sleat DE, Lackland H, Wang Y, Sohar I, Xiao G, Li H, Lobel P: The human brain mannose 6-phosphate glycoproteome: a complex mixture composed of multiple isoforms of many soluble lysosomal proteins. Proteomics. 2005, 5 (6): 1520-1532. 10.1002\/pmic.200401054.","journal-title":"Proteomics"},{"issue":"15","key":"432_CR25","doi-asserted-by":"publisher","first-page":"3966","DOI":"10.1002\/pmic.200401247","volume":"5","author":"K Kollmann","year":"2005","unstructured":"Kollmann K, Mutenda KE, Balleininger M, Eckermann E, von Figura K, Schmidt B, Lubke T: Identification of novel lysosomal matrix proteins by proteome analysis. Proteomics. 2005, 5 (15): 3966-3978. 10.1002\/pmic.200401247.","journal-title":"Proteomics"},{"issue":"1","key":"432_CR26","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/1471-2121-8-22","volume":"8","author":"A Lyly","year":"2007","unstructured":"Lyly A, von Schantz C, Salonen T, Kopra O, Saarela J, Jauhiainen M, Kyttala A, Jalanko A: Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1) - distinct characteristics in neurons. BMC Cell Biol. 2007, 8 (1): 22-10.1186\/1471-2121-8-22.","journal-title":"BMC Cell Biol"},{"issue":"3","key":"432_CR27","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1093\/jnen\/60.3.280","volume":"60","author":"E Kida","year":"2001","unstructured":"Kida E, Golabek AA, Walus M, Wujek P, Kaczmarski W, Wisniewski KE: Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions. Journal of neuropathology and experimental neurology. 2001, 60 (3): 280-292.","journal-title":"Journal of neuropathology and experimental neurology"},{"issue":"1","key":"432_CR28","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1016\/j.nbd.2004.08.013","volume":"18","author":"A Jalanko","year":"2005","unstructured":"Jalanko A, Vesa J, Manninen T, von Schantz C, Minye H, Fabritius AL, Salonen T, Rapola J, Gentile M, Kopra O: Mice with Ppt1(Deltaex4) mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons. Neurobiol Dis. 2005, 18 (1): 226-241. 10.1016\/j.nbd.2004.08.013.","journal-title":"Neurobiol Dis"},{"issue":"23","key":"432_CR29","doi-asserted-by":"publisher","first-page":"2893","DOI":"10.1093\/hmg\/ddh312","volume":"13","author":"O Kopra","year":"2004","unstructured":"Kopra O, Vesa J, von Schantz C, Manninen T, Minye H, Fabritius AL, Rapola J, van Diggelen OP, Saarela J, Jalanko A: A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. Hum Mol Genet. 2004, 13 (23): 2893-2906. 10.1093\/hmg\/ddh312.","journal-title":"Hum Mol Genet"},{"issue":"4","key":"432_CR30","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1006\/meth.2001.1262","volume":"25","author":"KJ Livak","year":"2001","unstructured":"Livak KJ, Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods (San Diego, Calif). 2001, 25 (4): 402-408.","journal-title":"Methods (San Diego, Calif)"},{"issue":"10","key":"432_CR31","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.1093\/hmg\/ddn028","volume":"17","author":"A Lyly","year":"2008","unstructured":"Lyly A, Marjavaara SK, Kyttala A, Uusi-Rauva K, Luiro K, Kopra O, Martinez LO, Tanhuanpaa K, Kalkkinen N, Suomalainen A: Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism. Hum Mol Genet. 2008, 17 (10): 1406-1417. 10.1093\/hmg\/ddn028.","journal-title":"Hum Mol Genet"},{"issue":"12","key":"432_CR32","doi-asserted-by":"publisher","first-page":"5480","DOI":"10.1091\/mbc.E05-03-0189","volume":"16","author":"M Johansson","year":"2005","unstructured":"Johansson M, Lehto M, Tanhuanpaa K, Cover TL, Olkkonen VM: The oxysterol-binding protein homologue ORP1L interacts with Rab7 and alters functional properties of late endocytic compartments. Molecular biology of the cell. 2005, 16 (12): 5480-5492. 10.1091\/mbc.E05-03-0189.","journal-title":"Molecular biology of the cell"},{"issue":"9","key":"432_CR33","doi-asserted-by":"publisher","first-page":"7135","DOI":"10.1074\/jbc.M211872200","volume":"278","author":"AA Golabek","year":"2003","unstructured":"Golabek AA, Kida E, Walus M, Wujek P, Mehta P, Wisniewski KE: Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I. J Biol Chem. 2003, 278 (9): 7135-7145. 10.1074\/jbc.M211872200.","journal-title":"J Biol Chem"},{"issue":"6541","key":"432_CR34","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1038\/376584a0","volume":"376","author":"J Vesa","year":"1995","unstructured":"Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L: Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 1995, 376 (6541): 584-587. 10.1038\/376584a0.","journal-title":"Nature"},{"issue":"2","key":"432_CR35","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1002\/ana.1103","volume":"50","author":"OP van Diggelen","year":"2001","unstructured":"van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JL, van Bunderen PA, Taschner PE, Losekoot M, Voznyi YV: Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann Neurol. 2001, 50 (2): 269-272. 10.1002\/ana.1103.","journal-title":"Ann Neurol"},{"issue":"Pt 3","key":"432_CR36","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1042\/bj3340547","volume":"334","author":"DE Sleat","year":"1998","unstructured":"Sleat DE, Sohar I, Pullarkat PS, Lobel P, Pullarkat RK: Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses. Biochem J. 1998, 334 (Pt 3): 547-551.","journal-title":"Biochem J"},{"issue":"1-3","key":"432_CR37","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/S0304-3940(99)00095-6","volume":"264","author":"MA Junaid","year":"1999","unstructured":"Junaid MA, Pullarkat RK: Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. Neurosci Lett. 1999, 264 (1-3): 157-160. 10.1016\/S0304-3940(99)00095-6.","journal-title":"Neurosci Lett"},{"issue":"10","key":"432_CR38","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1016\/j.bbadis.2006.09.004","volume":"1762","author":"I Tammen","year":"2006","unstructured":"Tammen I, Houweling PJ, Frugier T, Mitchell NL, Kay GW, Cavanagh JA, Cook RW, Raadsma HW, Palmer DN: A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA. Biochim Biophys Acta. 2006, 1762 (10): 898-905.","journal-title":"Biochim Biophys Acta"},{"issue":"2","key":"432_CR39","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1203\/pdr.0b013e31802d8a4a","volume":"61","author":"DA Persaud-Sawin","year":"2007","unstructured":"Persaud-Sawin DA, Mousallem T, Wang C, Zucker A, Kominami E, Boustany RM: Neuronal ceroid lipofuscinosis: a common pathway?. Pediatr Res. 2007, 61 (2): 146-152. 10.1203\/pdr.0b013e31802d8a4a.","journal-title":"Pediatr Res"},{"key":"432_CR40","doi-asserted-by":"crossref","unstructured":"Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell. 1995, 82 (6): 949-957. 10.1016\/0092-8674(95)90274-0.","DOI":"10.1016\/0092-8674(95)90274-0"},{"issue":"2","key":"432_CR41","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1093\/hmg\/ddm306","volume":"17","author":"C Kitzmuller","year":"2008","unstructured":"Kitzmuller C, Haines RL, Codlin S, Cutler DF, Mole SE: A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Hum Mol Genet. 2008, 17 (2): 303-312. 10.1093\/hmg\/ddm306.","journal-title":"Hum Mol Genet"},{"issue":"7081","key":"432_CR42","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1038\/nature04535","volume":"440","author":"PF Lange","year":"2006","unstructured":"Lange PF, Wartosch L, Jentsch TJ, Fuhrmann JC: ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function. Nature. 2006, 440 (7081): 220-223. 10.1038\/nature04535.","journal-title":"Nature"},{"issue":"4","key":"432_CR43","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1016\/j.cell.2007.10.018","volume":"131","author":"D Reczek","year":"2007","unstructured":"Reczek D, Schwake M, Schroder J, Hughes H, Blanz J, Jin X, Brondyk W, Van Patten S, Edmunds T, Saftig P: LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell. 2007, 131 (4): 770-783. 10.1016\/j.cell.2007.10.018.","journal-title":"Cell"},{"issue":"1-2","key":"432_CR44","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0165-3806(99)00115-7","volume":"118","author":"J Isosomppi","year":"1999","unstructured":"Isosomppi J, Heinonen O, Hiltunen JO, Greene ND, Vesa J, Uusitalo A, Mitchison HM, Saarma M, Jalanko A, Peltonen L: Developmental expression of palmitoyl protein thioesterase in normal mice. Brain Res Dev Brain Res. 1999, 118 (1-2): 1-11. 10.1016\/S0165-3806(99)00115-7.","journal-title":"Brain Res Dev Brain Res"},{"issue":"3","key":"432_CR45","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1002\/1096-9861(20001023)426:3<406::AID-CNE5>3.0.CO;2-5","volume":"426","author":"O Heinonen","year":"2000","unstructured":"Heinonen O, Salonen T, Jalanko A, Peltonen L, Copp A: CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain. J Comp Neurol. 2000, 426 (3): 406-412. 10.1002\/1096-9861(20001023)426:3<406::AID-CNE5>3.0.CO;2-5.","journal-title":"J Comp Neurol"},{"key":"432_CR46","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1186\/1471-2164-9-146","volume":"9","author":"C von Schantz","year":"2008","unstructured":"von Schantz C, Saharinen J, Kopra O, Cooper JD, Gentile M, Hovatta I, Peltonen L, Jalanko A: Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases. BMC Genomics. 2008, 9: 146-10.1186\/1471-2164-9-146.","journal-title":"BMC Genomics"},{"issue":"6918","key":"432_CR47","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1038\/nature01250","volume":"421","author":"LO Martinez","year":"2003","unstructured":"Martinez LO, Jacquet S, Esteve JP, Rolland C, Cabezon E, Champagne E, Pineau T, Georgeaud V, Walker JE, Terce F: Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis. Nature. 2003, 421 (6918): 75-79. 10.1038\/nature01250.","journal-title":"Nature"},{"issue":"1","key":"432_CR48","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1016\/j.nbd.2007.06.012","volume":"28","author":"L Ahtiainen","year":"2007","unstructured":"Ahtiainen L, Kolikova J, Mutka AL, Luiro K, Gentile M, Ikonen E, Khiroug L, Jalanko A, Kopra O: Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction. Neurobiol Dis. 2007, 28 (1): 52-64. 10.1016\/j.nbd.2007.06.012.","journal-title":"Neurobiol Dis"},{"issue":"52","key":"432_CR49","doi-asserted-by":"publisher","first-page":"39971","DOI":"10.1074\/jbc.M605095200","volume":"281","author":"B Haidar","year":"2006","unstructured":"Haidar B, Kiss RS, Sarov-Blat L, Brunet R, Harder C, McPherson R, Marcel YL: Cathepsin D, a Lysosomal Protease, Regulates ABCA1-mediated Lipid Efflux. J Biol Chem. 2006, 281 (52): 39971-39981. 10.1074\/jbc.M605095200.","journal-title":"J Biol Chem"},{"issue":"10","key":"432_CR50","doi-asserted-by":"publisher","first-page":"934","DOI":"10.1016\/j.bbadis.2006.09.001","volume":"1762","author":"A Jalanko","year":"2006","unstructured":"Jalanko A, Tyynela J, Peltonen L: From genes to systems: new global strategies for the characterization of NCL biology. Biochim Biophys Acta. 2006, 1762 (10): 934-944.","journal-title":"Biochim Biophys Acta"},{"issue":"5","key":"432_CR51","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1002\/ana.20975","volume":"60","author":"SB Narayan","year":"2006","unstructured":"Narayan SB, Rakheja D, Tan L, Pastor JV, Bennett MJ: CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase. Ann Neurol. 2006, 60 (5): 570-577. 10.1002\/ana.20975.","journal-title":"Ann Neurol"},{"issue":"8","key":"432_CR52","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1016\/S0968-0004(02)02154-0","volume":"27","author":"E Winter","year":"2002","unstructured":"Winter E, Ponting CP: TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?. Trends in biochemical sciences. 2002, 27 (8): 381-383. 10.1016\/S0968-0004(02)02154-0.","journal-title":"Trends in biochemical sciences"}],"container-title":["BMC Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2121-10-83.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T22:24:23Z","timestamp":1630448663000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmolcellbiol.biomedcentral.com\/articles\/10.1186\/1471-2121-10-83"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,26]]},"references-count":52,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["432"],"URL":"https:\/\/doi.org\/10.1186\/1471-2121-10-83","relation":{},"ISSN":["1471-2121"],"issn-type":[{"value":"1471-2121","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,26]]},"assertion":[{"value":"11 June 2009","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 November 2009","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 November 2009","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"83"}}